Linked Data
ClinVar Variation Id:
1733243
ClinVar RCV Id:
RCV002452227
dbSNP Id:
rs2148166397
COSMIC:
COSM6158021
MyVariant Identifiers:
chr2:g.29443605G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220739G>C , CM000664.2:g.29220739G>C | GRCh38 |
| NC_000002.11:g.29443605G>C , CM000664.1:g.29443605G>C | GRCh37 |
| NC_000002.10:g.29297109G>C | NCBI36 |
| NG_009445.1:g.705828C>G , LRG_488:g.705828C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3612C>G MANE Select | ENSP00000373700.3:p.Leu1204= | |
| ENST00000431873.6:c.839C>G | ||
| ENST00000638605.1:n.489C>G | ||
| ENST00000642122.1:c.408C>G | ENSP00000493203.1:p.Leu136= | |
| ENST00000389048.7:c.3612C>G | ENSP00000373700.3:p.Leu1204= | |
| ENST00000431873.5:c.492C>G | ENSP00000414027.2:p.Leu164= | |
| ENST00000618119.4:c.2481C>G | ENSP00000482733.1:p.Leu827= | |
| NM_004304.4:c.3612C>G | NP_004295.2:p.Leu1204= | |
| NM_001353765.1:c.408C>G | NP_001340694.1:p.Leu136= | |
| XM_024452778.1:c.765C>G | XP_024308546.1:p.Leu255= | |
| XM_024452779.1:c.408C>G | XP_024308547.1:p.Leu136= | |
| NM_004304.5:c.3612C>G MANE Select | NP_004295.2:p.Leu1204= | |
| NM_001353765.2:c.408C>G | NP_001340694.1:p.Leu136= |